Genetic syndromic immunodeficiencies with antibody defects.
This article reviews the major syndromic immunodeficiencies with significant antibody defects, many of which may require intravenous immunogammaglobulin therapy. The authors define syndromic immunodeficiency as an illness associated with a characteristic group of phenotypic abnormalities or laboratory features that comprise a recognizable syndrome. Many are familial with a defined inheritance pattern. Immunodeficiency may not be a major part of the illness and may not be present in all patients; thus, these conditions differ from primary immunodeficiency syndromes, in which immune abnormalities are a consistent and prominent feature of their disease.
Ming
Jeffrey E
JE
Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.
Stiehm
E Richard
ER
D049628:Body Size / Q000235:genetics / Q000276:immunology*; D000013:Congenital Abnormalities / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007116:Immunization, Passive; D007136:Immunoglobulins / Q000172:deficiency / Q000235:genetics; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics / Q000276:immunology* / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D009928:Organ Specificity; D010375:Pedigree
D007136:Immunoglobulins; D016756:Immunoglobulins, Intravenous